ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter) (rs533306015)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000220022 SCV000279416 pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing The C806X nonsense mutation in the JAG1 gene has been reported previously in association with Alagille syndrome (Colliton et al., 2001). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Studies also suggest that the C806X mutation induces a large splicing change (Xiong et al., 2015)
Invitae RCV000468229 SCV000545810 pathogenic Alagille syndrome 1 2016-04-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 806 (p.Cys806*) of the JAG1 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in JAG1 are known to be pathogenic (PMID: 11180599, 12497640). This particular variant was observed de novo in an individual with Alagille syndrome (PMID: 11180599). For these reasons, this variant has been classified as Pathogenic.

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